Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q).
Conclusions: Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.